Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
A 0.710 GeneticVariation GWASCAT Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. 26362759

2016

dbSNP: rs2476601
rs2476601
0.710 GeneticVariation BEFREE A significant association was noted between the R620W variant (rs2476601) and IIM (corrected P [Pcorr]=0.0009 versus controls), and specifically with the clinical subgroup of PM (Pcorr=0.003 versus controls). 18821667

2008

dbSNP: rs3094013
rs3094013
T 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. 26362759

2016

dbSNP: rs13277113
rs13277113
BLK
0.020 GeneticVariation BEFREE Our present study demonstrated that strong allele association was observed in overall PM/DM and PM patients for rs2736340 (P c = 6.48 × 10(-3); P c = 0.013, respectively), rs7812879 (P c = 0.017; P c = 0.034, respectively) and rs13277113 (P c = 0.011; P c = 0.047, respectively). 25846585

2015

dbSNP: rs13277113
rs13277113
BLK
0.020 GeneticVariation BEFREE A single-nucleotide polymorphism in C8orf13-BLK (dbSNP ID: rs13277113) was investigated in the Japanese population using a TaqMan assay in 283 polymyositis patients, 194 dermatomyositis patients, and 656 control subjects. 24632671

2014

dbSNP: rs10758593
rs10758593
0.010 GeneticVariation BEFREE Both rs7020673 and rs10758593 were associated with PM</span> in both additive and dominant models (p < 0.05); however, these observed associations were not apparent after Bonferroni correction. 28846454

2017

dbSNP: rs10814916
rs10814916
0.010 GeneticVariation BEFREE The aim of this study was to investigate whether SNPs in GLIS3 (rs7020673, rs10758593, and rs10814916) and TYK2 (rs280519, rs2304256, rs17000730, and rs280501) were associated with an increase in susceptibility to DM/PM in a Chinese Han population. 28846454

2017

dbSNP: rs17000730
rs17000730
0.010 GeneticVariation BEFREE The aim of this study was to investigate whether SNPs in GLIS3 (rs7020673, rs10758593, and rs10814916) and TYK2 (rs280519, rs2304256, rs17000730, and rs280501) were associated with an increase in susceptibility to DM/PM in a Chinese Han population. 28846454

2017

dbSNP: rs280501
rs280501
0.010 GeneticVariation BEFREE The aim of this study was to investigate whether SNPs in GLIS3 (rs7020673, rs10758593, and rs10814916) and TYK2 (rs280519, rs2304256, rs17000730, and rs280501) were associated with an increase in susceptibility to DM/PM in a Chinese Han population. 28846454

2017

dbSNP: rs7020673
rs7020673
0.010 GeneticVariation BEFREE Both rs7020673 and rs10758593 were associated with PM in both additive and dominant models (p < 0.05); however, these observed associations were not apparent after Bonferroni correction. 28846454

2017

dbSNP: rs10069690
rs10069690
0.010 GeneticVariation BEFREE Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. 26320593

2015

dbSNP: rs11171739
rs11171739
0.010 GeneticVariation BEFREE Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. 26320593

2015

dbSNP: rs2248932
rs2248932
BLK
0.010 GeneticVariation BEFREE The FAM167A-BLK single nucleotide polymorphisms (SNPs) rs2736340, rs7812879, rs13277113, rs2618479, rs2254546 and rs2248932 were analyzed in polymyositis (PM) patients (n = 310), DM patients (n = 535) and 968 ethnically matched healthy controls, with the Sequenom MassArray system. 25846585

2015

dbSNP: rs2254546
rs2254546
0.010 GeneticVariation BEFREE The frequency of the five haplotypes of the five SNPs (rs2736340, rs7812879, rs13277113, rs2618479 and rs2254546) was also significantly different between overall PM/DM, PM or DM patients and healthy controls. 25846585

2015

dbSNP: rs2292239
rs2292239
0.010 GeneticVariation BEFREE Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. 26320593

2015

dbSNP: rs2492358
rs2492358
0.010 GeneticVariation BEFREE Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. 26320593

2015

dbSNP: rs2736340
rs2736340
0.010 GeneticVariation BEFREE Our present study demonstrated that strong allele association was observed in overall PM/DM and PM patients for rs2736340 (P c = 6.48 × 10(-3); P c = 0.013, respectively), rs7812879 (P c = 0.017; P c = 0.034, respectively) and rs13277113 (P c = 0.011; P c = 0.047, respectively). 25846585

2015

dbSNP: rs2853676
rs2853676
0.010 GeneticVariation BEFREE Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system. 26320593

2015

dbSNP: rs7812879
rs7812879
0.010 GeneticVariation BEFREE Our present study demonstrated that strong allele association was observed in overall PM/DM and PM patients for rs2736340 (P c = 6.48 × 10(-3); P c = 0.013, respectively), rs7812879 (P c = 0.017; P c = 0.034, respectively) and rs13277113 (P c = 0.011; P c = 0.047, respectively). 25846585

2015

dbSNP: rs951005
rs951005
0.010 GeneticVariation BEFREE This was the first study to demonstrate that the CCL21 gene SNP (rs951005) might confer genetic predisposition to PM patients or such patients with ILD in a Chinese Han population. 26320593

2015

dbSNP: rs2230926
rs2230926
0.010 GeneticVariation BEFREE Our study indicated a strong allele association was observed in PM/DM and PM patients for rs2230926</span> (OR: 1.61, 95%CI: 1.20-2.16, P(c) = 7.5×10(-3); OR: 1.88, 95%CI: 1.30-2.74, P(c) = 4.0×10(-3), respectively) and rs5029939 (OR: 1.64, 95%CI: 1.21-2.21, P(c) = 6.0×10(-3); OR: 1.88, 95%CI: 1.28-2.76, P(c) = 5.5×10(-3), respectively). 25337792

2014

dbSNP: rs4728142
rs4728142
0.010 GeneticVariation BEFREE In addition, rs4728142 allele and genotype had significant association with PM/DM patients (P(c) = 0.026 and P(c) = 0.048, respectively). 25337792

2014

dbSNP: rs5029939
rs5029939
0.010 GeneticVariation BEFREE Our study indicated a strong allele association was observed in PM/DM and PM patients for rs2230926 (OR: 1.61, 95%CI: 1.20-2.16, P(c) = 7.5×10(-3); OR: 1.88, 95%CI: 1.30-2.74, P(c) = 4.0×10(-3), respectively) and rs5029939 (OR: 1.64, 95%CI: 1.21-2.21, P(c) = 6.0×10(-3); OR: 1.88, 95%CI: 1.28-2.76, P(c) = 5.5×10(-3), respectively). 25337792

2014

dbSNP: rs1990760
rs1990760
0.010 GeneticVariation BEFREE Additionally, when comparing the AA and AG + GG genotypes at rs1990760, the AA genotype was significantly more frequent in PM patients with ILD than in healthy controls [odds ratio, 3.23 (95% confidence interval, 1.06-9.81); P = 0.04] or in PM patients without ILD [odds ratio, 5.40 (95% confidence interval, 1.37-21.26); P = 0.027]. 20467774

2010